Treacher Collins is an autosomal dominant disorder requiring only a single copy of the altered allele in each cell to cause the disorder. More than half the cases of Treacher Collins are fresh mutations with no history of the disorder in the family. All cases of Treacher Collins are born with the disorder. An estimated one out of fifty-thousand people in the US are born with Treacher Collins. Similar disorders include Nager Sydrome and Miller Syndrome.
Age-related Macular Disease is the leading cause of severe vision loss in people over 60. It occurs when the small central portion of the retina, known as the macula, deteriorates. The retina is the light sensing nerve tissue at the back of the eye. Because the disease develops as a person ages, it is often referred to as the age-related macular degenerating (AMD). Although AMD can be a significant visual disability, it is almost never completely blinding.
Body parts that are usually directly affected are facial parts, the toes, the fore head, the ears, and the hands. Most individuals are not diagnosed until they receive specialized genetic tests, usually in mid-childhood or adulthood (Laurie Fundukian, 2010). SMS is a result of the deletion of 17p11.2 chromosome in the genetics of the reproductive cell in the early stage of fetal development. In SMS patients, a probe representing LLGL1 failed to hybridize with 1 of the 2 chromosome 17 homologs, suggesting that this gene may play a role in the pathogenesis of SMS ( Smith-Magenis, 2011). SMS is a developmental disorder that isn’t typically inherited.
(4) Stages & Symptoms Alagille syndrome may accommodate symptoms like Liver: Jaundice which is the yellowish staining in the skin and whites of the eyes. There is also poor growth in the first few months of the infant’s life. Later, repeated Jaundice starts to increase, there is also poor growth in early childhood, and severe itching. Malabsorption which is the bowel does not properly absorb fats and fat-soluble vitamins. Kidneys: A wide range of kidney diseases can occur in Alagille syndrome.
Spina bifida is a birth defect that involves the incomplete closure of the neural tube during fetal development. The most common location for spina bifida malformations is in the low thoracic and lumbar region of the spinal cord (Gutman, 2008). There are three types of spina bifida: spina bifida occulta, meningocele, and meningomyelocele. Spina bifida occulta is the most common and most benign form of spina bifida. It is also oftentimes called “hidden” spina bifida because there is no visible opening on the back.
(Bonnet et al). USH is an autosomal recessive disorder, with 2 major symptoms: sensorineural hearing impairment and Retinitis pigmentosa (R.P). R.P is an eye disorder that causes loss of peripheral vision and night blindness because the retina degenerates over time (Vache, C., et al). Types of Usher Syndrome: There are 3 types of Usher syndrome, type 1, type 2, and type 3. Type 1 is the most severe form.
Chloe: That’s right. Lesch-Nyhan Syndrome is caused by a mutation or change on your X chromosome. This change results in the absence of an enzyme called Hypoxanthine-guanine Phosphoribosyltransferase. This enzyme is needed to metabolize uric acid, and without this enzyme uric acid builds up in the central nervous system, kidneys, and other parts of the body. A woman has 2 X chromosomes.
Incredibly all it takes is one malformation in a gene for a simple mutation to occur. A human has 46 chromosomes, 23 from the mother, and 23 from the father. For Van der Woude syndrome to occur there only needs to be a change in the first gene, and only one parent needs to carry the mutation. As an inherited syndrome 95% of cases show signs, and 5% do not the only way to know for sure is to have genetic testing done. Van der Woude syndrome is the most common syndrome associated with cleft lip and cleft palate, affecting about 2% of cleft lip and cleft palate cases.
Extensive alcohol consumption during pregnancy can lead to a very detrimental and potentially fatal disorder known as fetal alcohol syndrome. Fetal alcohol syndrome causes mental retardation, diminished motor coordination, and distinct facial abnormalities. Facial abnormalities caused by FAS can include short eyelid openings, small upturned noses, small head, thin upper lip, and widely spaced eyes (Berk,
Most children who develop asthma have a family history of allergies. Early damage to the lungs caused by cystic fibrosis, premature birth, artificial ventilation in an intensive care unit, and certain viral illnesses (especially respiratory syncytial virus [RSV]) can also cause a predisposition to asthma. The severity of asthma varies greatly from child to child. Mild cases may involve only a cough associated with exercise or at night. The milder forms of the disease are the most common, but asthma in its most severe form can result in a catastrophic shortness of breath that leads to death Many simple steps can be taken to reduce asthma triggers in a child's home.